P33T (p.Pro33Thr) variant of CDC73 (Parafibromin)
P33T (p.Pro33Thr) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Parathyroid carcinoma. The record also includes variant effect predictions and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- Ensembl rs2103111743
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- MetaLR 0.61
- MetaSVM 0.29
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available